Linked Data
ClinVar Variation Id:
309682
dbSNP Id:
rs201754946
ExAC:
12:53203235 C / T
gnomAD v2:
12-53203235-C-T
gnomAD v3:
12-52809451-C-T
gnomAD v4:
12-52809451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52809451C>T , CM000674.2:g.52809451C>T | GRCh38 |
| NC_000012.11:g.53203235C>T , CM000674.1:g.53203235C>T | GRCh37 |
| NC_000012.10:g.51489502C>T | NCBI36 |
| NG_007380.1:g.10101G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551956.2:c.766G>A MANE Select | ENSP00000448220.1:p.Val256Met | |
| ENST00000548097.5:c.*278G>A | ENSP00000449755.1:n.*278G>A | |
| ENST00000549295.1:n.200G>A | ||
| ENST00000551956.1:c.766G>A | ENSP00000448220.1:p.Val256Met | |
| ENST00000552668.1:c.*171G>A | ENSP00000447320.1:n.*171G>A | |
| NM_002272.3:c.766G>A | NP_002263.3:p.Val256Met | |
| NM_002272.4:c.766G>A MANE Select | NP_002263.3:p.Val256Met |